Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1217
Variant:p.Q453E

KIAA1217

138 papers

Pfam Domains

AIP3aa 188–289UCSCActin interacting protein 3
AIP3aa 188–289UCSCActin interacting protein 3

Gene Aliases

HGNC Alias Symbols

DKFZP761L0424; SKT; ETL4

HGNC Alias Name

sickle tail

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019590.5
p.Q453E
c.1357C>G
Surrounding Variants
1 paper
NM_019590.5
p.P459L
c.1376C>T
1 paper
NM_019590.5
p.I429L
c.1285A>C
1 paper
NM_019590.5
p.M483I
c.1449G>A
1 paper
NM_019590.5
p.M483I
c.1449G>C
1 paper
NM_019590.5
p.M483I
c.1449G>T
1 paper
NM_019590.5
p.M486V
c.1456A>G
1 paper
NM_019590.5
p.G494S
c.1480G>A
1 paper
NM_019590.5
p.P495S
c.1483C>T
1 paper
NM_019590.5
p.R503W
c.1507C>T
2 papers
NM_019590.5
p.R508H
c.1523G>A
1 paper
NM_019590.5
p.N389K
c.1167T>G
1 paper
NM_019590.5
p.V519V
c.1557G>A
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